Article
Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies
27 Mar 2020
Abstract excerpt
Next generation sequencing (NGS) has revolutionised rare disease diagnostics. Concomitant with advancing technologies has been a rise in the number of new gene disorders discovered and diagnoses made for patients and their families. However, despite the trend towards whole exome and whole genome sequencing, diagnostic rates remain suboptimal. On average, only ~30% of patients receive a molecular diagnosis....
Topics
Join the communities discussing this publication.